NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
|
rs143192349
|
0.00328
|
NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys)
|
rs139317756
|
0.00181
|
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)
|
rs199706377
|
0.00149
|
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)
|
rs140556652
|
0.00149
|
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00131
|
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)
|
rs147979953
|
0.00121
|
NM_001277115.2(DNAH11):c.7267-5C>G
|
rs370674737
|
0.00113
|
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)
|
rs200260585
|
0.00102
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser)
|
rs200839854
|
0.00076
|
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln)
|
rs142184414
|
0.00075
|
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys)
|
rs199740667
|
0.00056
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)
|
rs143745645
|
0.00048
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)
|
rs200485999
|
0.00042
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg)
|
rs150050027
|
0.00036
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)
|
rs201739201
|
0.00031
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
|
rs138815960
|
0.00021
|
NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)
|
rs746361802
|
0.00021
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)
|
rs372733227
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)
|
rs771891040
|
0.00009
|
NM_001372.4(DNAH9):c.11444G>A (p.Arg3815Gln)
|
rs145166733
|
0.00009
|
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)
|
rs368260932
|
0.00008
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His)
|
rs1169328891
|
0.00007
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00006
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)
|
rs781180515
|
0.00005
|
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)
|
rs781326398
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)
|
rs149230619
|
0.00003
|
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)
|
rs1040832003
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.469del (p.Arg157fs)
|
rs773760404
|
0.00002
|
NM_001270974.2(HYDIN):c.3187A>G (p.Lys1063Glu)
|
rs1214490303
|
0.00001
|
NM_001270974.2(HYDIN):c.6864C>A (p.His2288Gln)
|
rs1336810918
|
0.00001
|
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys)
|
rs1262229619
|
0.00001
|
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)
|
rs377691013
|
0.00001
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)
|
rs1190944498
|
0.00001
|
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)
|
rs1566903524
|
0.00001
|
NM_001369.3(DNAH5):c.2052+1G>T
|
rs1774569455
|
0.00001
|
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys)
|
rs1409796457
|
0.00001
|
NM_015512.5(DNAH1):c.5244+1G>A
|
rs369746640
|
0.00001
|
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln)
|
rs991936622
|
0.00001
|
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)
|
rs772757329
|
0.00001
|
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)
|
rs780020801
|
0.00001
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)
|
|
|
NM_001270974.2(HYDIN):c.7370T>C (p.Phe2457Ser)
|
|
|
NM_001277115.1:c.5554_6181-2105delinsGGTA
|
|
|
NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)
|
rs546189940
|
|
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)
|
rs762314534
|
|
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
|
|
|
NM_001364171.2(ODAD1):c.1336C>T (p.Leu446Phe)
|
rs751149003
|
|
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
|
|
|
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
|
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)
|
rs144958262
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)
|
rs1270916321
|
|
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)
|
rs760595654
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
NM_001372.4(DNAH9):c.8293del (p.Glu2765fs)
|
|
|
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)
|
rs199960819
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
|
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs)
|
rs774671946
|
|
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)
|
rs138954776
|
|
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln)
|
rs560527787
|
|
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His)
|
rs200951874
|
|
NM_015512.5(DNAH1):c.2254C>T (p.Arg752Ter)
|
|
|
NM_015512.5(DNAH1):c.2992A>G (p.Asn998Asp)
|
rs1042476924
|
|
NM_015910.7(WDPCP):c.1011G>C (p.Lys337Asn)
|
rs1694406253
|
|
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
|
|
|
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys)
|
rs2143578223
|
|
NM_017950.4(CCDC40):c.798del (p.Ser267fs)
|
|
|
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs)
|
rs863223325
|
|
NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer)
|
rs753649614
|
|
NM_145038.5(DRC1):c.109dup (p.Gln37fs)
|
rs750136163
|
|
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)
|
rs397515340
|
|
NM_178452.6(DNAAF1):c.1202T>C (p.Val401Ala)
|
|
|
NM_178452.6(DNAAF1):c.2049_2056del (p.Ala684fs)
|
rs1567570991
|
|
NM_178452.6(DNAAF1):c.2143dup (p.Asp715fs)
|
|
|
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)
|
rs781526810
|
|